Category: Rare disorder with ptosis
- Acrootoocular syndrome
- Atrioventricular defect-blepharophimosis-radial and anal defect syndrome
- Baraitser-Winter syndrome
- Blepharophimosis, ptosis, and epicanthus inversus syndrome
- Blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome
- Blepharophimosis-radioulnar synostosis syndrome
- Borjeson-Forssman-Lehmann syndrome
- Centronuclear myopathy
- Char syndrome
- Congenital fibrosis of the extraocular muscles
- Congenital myasthenic syndrome
- Congenital ptosis
- Cornelia de Lange syndrome
- Dopamine beta-hydroxylase deficiency
- Dubowitz syndrome
- Goldberg-Shprintzen megacolon syndrome
- Horner syndrome
- Jacobsen syndrome
- Marcus-Gunn syndrome
- Mitochondrial neurogastrointestinal encephalopathy disease
- Mucopolysaccharidosis type II
- Noonan syndrome
- Oculogastrointestinal muscular dystrophy
- Oculopharyngeal muscular dystrophy
- Oculopharyngodistal myopathy
- Progressive external ophthalmoplegia
- Proximal myotonic myopathy
- Ptosis-strabismus-ectopic pupils syndrome
- Ptosis-upper ocular movement limitation-absence of lacrimal punctum syndrome
- Ptosis-vocal cord paralysis syndrome
- Saethre-Chotzen syndrome
- Smith-Lemli-Opitz syndrome
- Steinert myotonic dystrophy
- Treacher Collins syndrome
- X-linked myotubular myopathy
- OrphaNet: ORPHA:98578
- MedDRA: 10037272
- MeSH: D001763
- UMLS: C0005745